The intron 4c allele of the NOS3 gene is associated with ischemic stroke in African Americans

Background  

Ischemic stroke is the most common cause of disability in North America and in addition to the generally accepted risk factors, there is increasing evidence for the potential pathophysiological role of genes. One of these genes, the endothelial nitric oxide synthase gene (NOS3) has been reported as a genetic risk factor for ischemic stroke. To independently confirm and extend the results of these previous reports, we investigated this gene as a risk factor for stroke in an ethnically diverse study population.     

Hereditary Spastic Paraplegia Type 43 (SPG43) is Caused by Mutation in C19orf12

We report here the genetic basis for a form of progressive hereditary spastic paraplegia (SPG43) previously described in two Malian sisters. Exome sequencing revealed a homozygous missense variant (c.187G>C; p.Ala63Pro) in C19orf12, a gene recently implicated in neurodegeneration with brain iron accumulation (NBIA). The same mutation was subsequently also found in a Brazilian family with features of NBIA, and we identified another NBIA patient with a three‐nucleotide deletion (c.197_199del; p.Gly66del). Haplotype analysis revealed that the p.Ala63Pro mutations have a common origin, but MRI scans showed no brain iron deposition in the Malian SPG43 subjects. Heterologous expression of these SPG43 and NBIA variants resulted in similar alterations in the subcellular distribution of C19orf12. The SPG43 and NBIA variants reported here as well as the most common C19orf12 missense mutation reported in NBIA patients are found within a highly conserved, extended hydrophobic domain in C19orf12, underscoring the functional importance of this domain.     

核、膜蛋白的基因能抑制禽类流感病毒及其重组株的繁殖

对人流感病毒A/Udorn/72(H_3N_2)株与禽类流感病毒A/Mallard/NY/78/(H_2N_2)重组后的重组株分析表明,仅含禽类病毒的核蛋白(NP)或膜蛋白(M)的RNA片段的重组株,在松鼠猴的呼吸道繁殖是受限制的。另外。仅有禽类的RNAl和NS基因的重组株(Clone 12)在松鼠猴的气管内的繁殖也明显受限制,而只具有其中一个基因的Clone 9, Clone 2, 则限制就不明显。由此表明,禽类流感病毒的NP和M基因在宿主范围的繁殖限制中起主要作用,而RNAI和SN基因的结合,同样起着繁殖受限制作用。